Хайлтын үр дүнгүүд - Niyazov, Dmitriy M.

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment -н Niyazov, Dmitriy M., Kahler, Stephan G., Frye, Richard E.

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Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder -н Rose, Shannon, Niyazov, Dmitriy M., Rossignol, Daniel A., Goldenthal, Michael, Kahler, Stephen G., Frye, Richard E.

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Distinctive Phenotype in 9 Patients with Deletion of Chromosome 1q24-q25 -н Burkardt, Deepika D’Cunha, Rosenfeld, Jill A., Helgeson, Maria, Angle, Brad, Banks, Valerie, Smith, Wendy, Gripp, Karen W., Moline, Jessica, Moran, Rocio, Niyazov, Dmitriy M., Stevens, Cathy, Zackai, Elaine, Lebel, Robert Roger, Ashley, Douglas, Kramer, Nancy, Lachman, Ralph S., Graham, John M.

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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe dise... -н Kazi, Zoheb B., Desai, Ankit K., Troxler, R. Bradley, Kronn, David, Packman, Seymour, Sabbadini, Marta, Rizzo, William B., Scherer, Katalin, Abdul-Rahman, Omar, Tanpaiboon, Pranoot, Nampoothiri, Sheela, Gupta, Neerja, Feigenbaum, Annette, Niyazov, Dmitriy M., Langston, Sherry, Segel, Reeval, McVie-Wylie, Alison, Sung, Crystal, Joseph, Alexandra M., Richards, Susan, Kishnani, Priya S.

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Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants -н Gauquelin, Laurence, Cayami, Ferdy K., Sztriha, László, Yoon, Grace, Tran, Luan T., Guerrero, Kether, Hocke, François, van Spaendonk, Rosalina M.L., Fung, Eva L., D'Arrigo, Stefano, Vasco, Gessica, Thiffault, Isabelle, Niyazov, Dmitriy M., Person, Richard, Lewis, Kara Stuart, Wassmer, Evangeline, Prescott, Trine, Fallon, Penny, McEntagart, Meriel, Rankin, Julia, Webster, Richard, Philippi, Heike, van de Warrenburg, Bart, Timmann, Dagmar, Dixit, Abhijit, Searle, Claire, Thakur, Nivedita, Kruer, Michael C., Sharma, Suvasini, Vanderver, Adeline, Tonduti, Davide, van der Knaap, Marjo S., Bertini, Enrico, Goizet, Cyril, Fribourg, Sébastien, Wolf, Nicole I., Bernard, Geneviève

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Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants -н Girirajan, Santhosh, Rosenfeld, Jill A., Coe, Bradley P., Parikh, Sumit, Friedman, Neil, Goldstein, Amy, Filipink, Robyn A., McConnell, Juliann S., Angle, Brad, Meschino, Wendy S., Nezarati, Marjan M., Asamoah, Alexander, Jackson, Kelly E., Gowans, Gordon C., Martin, Judith A., Carmany, Erin P., Stockton, David W., Schnur, Rhonda E., Penney, Lynette S., Martin, Donna M., Raskin, Salmo, Leppig, Kathleen, Thiese, Heidi, Smith, Rosemarie, Aberg, Erika, Niyazov, Dmitriy M., Escobar, Luis F., El-Khechen, Dima, Johnson, Kisha D., Lebel, Robert R., Siefkas, Kiana, Ball, Susie, Shur, Natasha, McGuire, Marianne, Brasington, Campbell K., Spence, J. Edward, Martin, Laura S., Clericuzio, Carol, Ballif, Blake C., Shaffer, Lisa G., Eichler, Evan E.

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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy -н Lahrouchi, Najim, Postma, Alex V., Salazar, Christian M., De Laughter, Daniel M., Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z., Zimmerman, Dominic, Lodder, Elisabeth M., Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y., Burn, Sabrina C., Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M., Wolf, Barry, Kim, Katherine H., Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C., Ten Harkel, Arend D.J., Manten, Gwendolyn T.R., Dutman, Annemiek C., Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs W.E., Herkert, Johanna C., Brown, H. Alex, Elpeleg, Orly, van den Hoff, Maurice J.B., Mulder, Barbara, Airola, Michael V., Kmoch, Stanislav, Barnett, Joey V., Clur, Sally-Ann, Frohman, Michael A., Bezzina, Connie R.

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